Mutations

PSEN1 G209R

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659428 G>A
dbSNP ID: rs63749880
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: GGA to AGA

Findings

This mutation was found in a Japanese family affected by early onset Alzheimer’s disease (Sugiyama et al., 1999). At least six family members were affected (Marui et al., 2003). The proband developed symptoms at age 46. His sister and mother were also affected, with onset at age 48 and 53, respectively. All three showed progressive memory impairment, disorientation, and personality changes. The mutation was found in all three affected family members tested, suggesting segregation with disease; however, no unaffected family members were genotyped.

Neuropathology

Unknown. Imaging showed mild brain atrophy in the temporal lobes at early stages and diffuse brain atrophy predominantly in the frontotemporal lobes at advanced stages. Hypoperfusion in the frontotemporal areas was also seen at early stages, extending to the parieto-occipital areas at advanced stages (Marui et al., 2003).

Biological Effect

Unknown.

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References

Paper Citations

  1. . A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online. Hum Mutat. 1999;14(1):90. PubMed.
  2. . [A Japanese family with familial Alzheimer's disease associated with presenilin 1 mutation: relationship between younger age of onset and ApoE gene polymorphism]. No To Shinkei. 2003 Apr;55(4):349-53. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database
  2. Japanese Familial Alzheimer's Disease Database

Primary Papers

  1. . A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online. Hum Mutat. 1999;14(1):90. PubMed.

Other mutations at this position

Alzpedia